Glycogen storage disease ixa


What are the signs of glycogen storage disease IXa?

Babies and children with glycogen storage disease type IXa (GSD IXa) may have a large liver (known as hepatomegaly), slow growth, slightly delayed motor skills and low blood sugar while fasting. Most symptoms of GSD IXa improve by puberty.

Many children present with hypoglycemia (low blood sugar levels) with the presence of ketones (a substance that can be measured in the blood and urine and indicates that the body is utilizing alternative energy sources during fasting). Occasionally, hypoglycemia can be so significant that it triggers a seizure.

Other features that may indicate GSD IXa include elevated liver function enzymes, elevated triglycerides and cholesterol levels, and in more severe cases elevated uric acid and lactic acid levels in the blood.

A liver biopsy may be completed and will show enlarged liver cells (hepatocytes) as a result of excess glycogen accumulation. The liver cells may also show low-grade inflammation and septal fibrosis. Very rarely, liver cirrhosis may also be seen.

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What makes glycogen storage disease IXa worse?

What health problems will my child with glycogen storage disease IXa have?

What makes glycogen storage disease IXa worse?

Fasting can cause low blood sugar in people with glycogen storage disease type IXa. Low blood sugar can be dangerous and may lead to seizures. Other symptoms of hypoglycemia may include shakiness, tremors, sweating, chills, clamminess, irritability, rapid heart rate, vomiting and nausea, weakness and/or incontrollable fussiness in a newborn or infant. These symptoms are considered a medical emergency if not treated promptly.

What health problems will my child with glycogen storage disease IXa have?

People with glycogen storage disease type IXa (GSD IXa) cannot release stored glycogen from the liver for energy between meals. People with GSD IXa can get low blood sugar (known as hypoglycemia) if they do not eat often and may need to eat more frequently to stay healthy. If your child is shaky, confused, irritable, clammy, dizzy or exhausted, this may be a sign of low blood sugar and you should contact your doctor immediately, as this can be considered a medical emergency.

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